Canonical Allele Identifier: CA1706432

Gene: DYSF

Linked Data

• ClinVar Variation Id: 284003
• ClinVar RCV Id: RCV000313635 ; RCV000666376 ; RCV000701610 ; RCV002494839
• dbSNP Id: rs764931697
• ExAC: 2:71797756 C / T
• gnomAD v2: 2-71797756-C-T
• gnomAD v3: 2-71570626-C-T
• gnomAD v4: 2-71570626-C-T
• MyVariant Identifiers: chr2:g.71797756C>T (hg19) ; chr2:g.71570626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570626C>T , CM000664.2:g.71570626C>T	GRCh38
NC_000002.11:g.71797756C>T , CM000664.1:g.71797756C>T	GRCh37
NC_000002.10:g.71651264C>T	NCBI36
NG_008694.1:g.122004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.485C>T	ENSP00000513536.1:p.Pro162Leu
ENST00000258104.8:c.3059C>T MANE Plus Clinical	ENSP00000258104.3:p.Pro1020Leu
ENST00000410020.8:c.3113C>T MANE Select	ENSP00000386881.3:p.Pro1038Leu
ENST00000258104.7:c.3059C>T	ENSP00000258104.3:p.Pro1020Leu
ENST00000394120.6:c.3062C>T	ENSP00000377678.2:p.Pro1021Leu
ENST00000409366.5:c.3062C>T	ENSP00000386512.1:p.Pro1021Leu
ENST00000409582.7:c.3110C>T	ENSP00000386547.3:p.Pro1037Leu
ENST00000409651.5:c.3155C>T	ENSP00000386683.1:p.Pro1052Leu
ENST00000409744.5:c.3020C>T	ENSP00000386285.1:p.Pro1007Leu
ENST00000409762.5:c.3110C>T	ENSP00000387137.1:p.Pro1037Leu
ENST00000410020.7:c.3113C>T	ENSP00000386881.3:p.Pro1038Leu
ENST00000410041.1:c.3113C>T	ENSP00000386617.1:p.Pro1038Leu
ENST00000413539.6:c.3152C>T	ENSP00000407046.2:p.Pro1051Leu
ENST00000429174.6:c.3059C>T	ENSP00000398305.2:p.Pro1020Leu
ENST00000461565.1:n.225C>T
NM_001130455.1:c.3062C>T	NP_001123927.1:p.Pro1021Leu
NM_001130976.1:c.3017C>T	NP_001124448.1:p.Pro1006Leu
NM_001130977.1:c.3017C>T	NP_001124449.1:p.Pro1006Leu
NM_001130978.1:c.3059C>T	NP_001124450.1:p.Pro1020Leu
NM_001130979.1:c.3152C>T	NP_001124451.1:p.Pro1051Leu
NM_001130980.1:c.3110C>T	NP_001124452.1:p.Pro1037Leu
NM_001130981.1:c.3110C>T	NP_001124453.1:p.Pro1037Leu
NM_001130982.1:c.3155C>T	NP_001124454.1:p.Pro1052Leu
NM_001130983.1:c.3062C>T	NP_001124455.1:p.Pro1021Leu
NM_001130984.1:c.3020C>T	NP_001124456.1:p.Pro1007Leu
NM_001130985.1:c.3113C>T	NP_001124457.1:p.Pro1038Leu
NM_001130986.1:c.3020C>T	NP_001124458.1:p.Pro1007Leu
NM_001130987.1:c.3113C>T	NP_001124459.1:p.Pro1038Leu
NM_003494.3:c.3059C>T	NP_003485.1:p.Pro1020Leu
XM_005264584.3:c.3155C>T	XP_005264641.1:p.Pro1052Leu
XM_005264585.3:c.3152C>T	XP_005264642.1:p.Pro1051Leu
XM_005264584.4:c.3155C>T	XP_005264641.1:p.Pro1052Leu
XM_005264585.5:c.3152C>T	XP_005264642.1:p.Pro1051Leu
XR_001738969.1:n.3313C>T
NM_001130987.2:c.3113C>T MANE Select	NP_001124459.1:p.Pro1038Leu
NM_001130455.2:c.3062C>T	NP_001123927.1:p.Pro1021Leu
NM_001130976.2:c.3017C>T	NP_001124448.1:p.Pro1006Leu
NM_001130977.2:c.3017C>T	NP_001124449.1:p.Pro1006Leu
NM_001130978.2:c.3059C>T	NP_001124450.1:p.Pro1020Leu
NM_001130979.2:c.3152C>T	NP_001124451.1:p.Pro1051Leu
NM_001130980.2:c.3110C>T	NP_001124452.1:p.Pro1037Leu
NM_001130981.2:c.3110C>T	NP_001124453.1:p.Pro1037Leu
NM_001130982.2:c.3155C>T	NP_001124454.1:p.Pro1052Leu
NM_001130983.2:c.3062C>T	NP_001124455.1:p.Pro1021Leu
NM_001130984.2:c.3020C>T	NP_001124456.1:p.Pro1007Leu
NM_001130985.2:c.3113C>T	NP_001124457.1:p.Pro1038Leu
NM_001130986.2:c.3020C>T	NP_001124458.1:p.Pro1007Leu
NM_003494.4:c.3059C>T MANE Plus Clinical	NP_003485.1:p.Pro1020Leu