Canonical Allele Identifier: CA395409055

Gene: ATXN2L

Linked Data

• MyVariant Identifiers: chr16:g.28847338C>T (hg19) ; chr16:g.28836017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28836017C>T , CM000678.2:g.28836017C>T	GRCh38
NC_000016.9:g.28847338C>T , CM000678.1:g.28847338C>T	GRCh37
NC_000016.8:g.28754839C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336783.9:c.2980C>T MANE Select	ENSP00000338718.4:p.Pro994Ser
ENST00000325215.10:c.2980C>T	ENSP00000315650.6:p.Pro994Ser
ENST00000336783.8:c.2980C>T	ENSP00000338718.4:p.Pro994Ser
ENST00000340394.12:c.2980C>T	ENSP00000341459.8:p.Pro994Ser
ENST00000382686.8:c.2980C>T	ENSP00000372133.4:p.Pro994Ser
ENST00000395547.6:c.2980C>T	ENSP00000378917.2:p.Pro994Ser
ENST00000562583.5:c.955C>T	ENSP00000456162.2:p.Pro319Ser
ENST00000563314.5:n.3354C>T
ENST00000564162.1:c.175C>T	ENSP00000455427.1:p.Pro59Ser
ENST00000564304.5:c.2998C>T	ENSP00000457613.1:p.Pro1000Ser
ENST00000565971.5:c.2044C>T	ENSP00000457599.1:n.2044C>T
ENST00000566007.5:c.249C>T
ENST00000566946.5:c.958C>T	ENSP00000454757.1:p.Pro320Ser
ENST00000569318.1:c.500C>T
ENST00000570200.5:c.2980C>T	ENSP00000454516.1:p.Pro994Ser
NM_001308230.1:c.2998C>T	NP_001295159.1:p.Pro1000Ser
NM_007245.3:c.2980C>T	NP_009176.2:p.Pro994Ser
NM_017492.3:c.2980C>T	NP_059867.3:p.Pro994Ser
NM_145714.2:c.2980C>T	NP_663760.1:p.Pro994Ser
NM_148414.2:c.2980C>T	NP_680780.1:p.Pro994Ser
NM_148415.2:c.2980C>T	NP_680781.1:p.Pro994Ser
NM_148416.2:c.2980C>T	NP_680782.1:p.Pro994Ser
XM_005255061.1:c.3001C>T	XP_005255118.1:p.Pro1001Ser
XM_005255062.1:c.3001C>T	XP_005255119.1:p.Pro1001Ser
XM_005255063.2:c.3001C>T	XP_005255120.1:p.Pro1001Ser
XM_005255064.1:c.2998C>T	XP_005255121.1:p.Pro1000Ser
XM_005255065.1:c.2983C>T	XP_005255122.1:p.Pro995Ser
XM_005255066.1:c.2980C>T	XP_005255123.1:p.Pro994Ser
XM_005255067.1:c.3001C>T	XP_005255124.1:p.Pro1001Ser
XM_005255068.1:c.3001C>T	XP_005255125.1:p.Pro1001Ser
XM_005255069.1:c.3001C>T	XP_005255126.1:p.Pro1001Ser
XM_005255070.1:c.3001C>T	XP_005255127.1:p.Pro1001Ser
XM_005255071.1:c.3001C>T	XP_005255128.1:p.Pro1001Ser
XM_005255074.1:c.3001C>T	XP_005255131.1:p.Pro1001Ser
XM_005255075.1:c.3001C>T	XP_005255132.1:p.Pro1001Ser
XM_005255076.1:c.2998C>T	XP_005255133.1:p.Pro1000Ser
XM_005255077.1:c.2821C>T	XP_005255134.1:p.Pro941Ser
XM_006721007.1:c.2929C>T	XP_006721070.1:p.Pro977Ser
XM_006721008.1:c.2911C>T	XP_006721071.1:p.Pro971Ser
XM_006721009.1:c.3001C>T	XP_006721072.1:p.Pro1001Ser
XM_006721010.2:c.3001C>T	XP_006721073.1:p.Pro1001Ser
XM_006721011.1:c.3001C>T	XP_006721074.1:p.Pro1001Ser
XM_006721012.2:c.3001C>T	XP_006721075.1:p.Pro1001Ser
XM_006721013.2:c.3001C>T	XP_006721076.1:p.Pro1001Ser
XM_011545719.1:c.3001C>T	XP_011544021.1:p.Pro1001Ser
XM_011545720.1:c.3001C>T	XP_011544022.1:p.Pro1001Ser
XM_011545721.1:c.3001C>T	XP_011544023.1:p.Pro1001Ser
XM_011545722.1:c.2635C>T	XP_011544024.1:p.Pro879Ser
XR_243256.1:n.3210C>T
XM_005255063.4:c.3001C>T	XP_005255120.1:p.Pro1001Ser
XM_006721012.4:c.3001C>T	XP_006721075.1:p.Pro1001Ser
XM_011545719.2:c.3001C>T	XP_011544021.1:p.Pro1001Ser
XM_017022891.1:c.2803C>T	XP_016878380.1:p.Pro935Ser
XM_017022892.1:c.2617C>T	XP_016878381.1:p.Pro873Ser
XR_001751820.1:n.3213C>T
NM_001308230.2:c.2998C>T	NP_001295159.1:p.Pro1000Ser
NM_001387166.1:c.2998C>T	NP_001374095.1:p.Pro1000Ser
NM_001387167.1:c.2980C>T	NP_001374096.1:p.Pro994Ser
NM_001387168.1:c.2980C>T	NP_001374097.1:p.Pro994Ser
NM_001387169.1:c.2998C>T	NP_001374098.1:p.Pro1000Ser
NM_001387170.1:c.2998C>T	NP_001374099.1:p.Pro1000Ser
NM_001387171.1:c.3001C>T	NP_001374100.1:p.Pro1001Ser
NM_001387172.1:c.2998C>T	NP_001374101.1:p.Pro1000Ser
NM_001387173.1:c.2983C>T	NP_001374102.1:p.Pro995Ser
NM_001387174.1:c.2980C>T	NP_001374103.1:p.Pro994Ser
NM_001387175.1:c.2980C>T	NP_001374104.1:p.Pro994Ser
NM_001387176.1:c.2980C>T	NP_001374105.1:p.Pro994Ser
NM_001387177.1:c.2980C>T	NP_001374106.1:p.Pro994Ser
NM_001387178.1:c.2983C>T	NP_001374107.1:p.Pro995Ser
NM_001387179.1:c.2908C>T	NP_001374108.1:p.Pro970Ser
NM_001387180.1:c.2974C>T	NP_001374109.1:p.Pro992Ser
NM_001387181.1:c.3001C>T	NP_001374110.1:p.Pro1001Ser
NM_001387182.1:c.2998C>T	NP_001374111.1:p.Pro1000Ser
NM_001387183.1:c.2983C>T	NP_001374112.1:p.Pro995Ser
NM_001387184.1:c.2983C>T	NP_001374113.1:p.Pro995Ser
NM_001387185.1:c.2908C>T	NP_001374114.1:p.Pro970Ser
NM_001387186.1:c.2911C>T	NP_001374115.1:p.Pro971Ser
NM_001387187.1:c.2911C>T	NP_001374116.1:p.Pro971Ser
NM_001387188.1:c.2908C>T	NP_001374117.1:p.Pro970Ser
NM_001387189.1:c.2998C>T	NP_001374118.1:p.Pro1000Ser
NM_001387190.1:c.2998C>T	NP_001374119.1:p.Pro1000Ser
NM_001387191.1:c.2983C>T	NP_001374120.1:p.Pro995Ser
NM_001387192.1:c.2983C>T	NP_001374121.1:p.Pro995Ser
NM_001387193.1:c.2998C>T	NP_001374122.1:p.Pro1000Ser
NM_001387194.1:c.2983C>T	NP_001374123.1:p.Pro995Ser
NM_001387195.1:c.2980C>T	NP_001374124.1:p.Pro994Ser
NM_001387196.1:c.2980C>T	NP_001374125.1:p.Pro994Ser
NM_001387197.1:c.2926C>T	NP_001374126.1:p.Pro976Ser
NM_001387198.1:c.2980C>T	NP_001374127.1:p.Pro994Ser
NM_001387199.1:c.2911C>T	NP_001374128.1:p.Pro971Ser
NM_001387200.1:c.2926C>T	NP_001374129.1:p.Pro976Ser
NM_001387202.1:c.2908C>T	NP_001374131.1:p.Pro970Ser
NM_001387203.1:c.2791C>T	NP_001374132.1:p.Pro931Ser
NM_001387204.1:c.2896-106C>T	NP_001374133.1:n.2896-106C>T
NM_007245.4:c.2980C>T MANE Select	NP_009176.2:p.Pro994Ser
NM_017492.4:c.2980C>T	NP_059867.3:p.Pro994Ser
NM_145714.3:c.2980C>T	NP_663760.1:p.Pro994Ser
NM_148414.3:c.2980C>T	NP_680780.1:p.Pro994Ser
NM_148415.3:c.2980C>T	NP_680781.1:p.Pro994Ser
NM_148416.3:c.2980C>T	NP_680782.1:p.Pro994Ser