Canonical Allele Identifier: CA409913817

Gene: HLCS

Linked Data

• ClinVar Variation Id: 2420338
• ClinVar RCV Id: RCV003118863
• MyVariant Identifiers: chr21:g.38309587G>A (hg19) ; chr21:g.36937287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36937287G>A , CM000683.2:g.36937287G>A	GRCh38
NC_000021.8:g.38309587G>A , CM000683.1:g.38309587G>A	GRCh37
NC_000021.7:g.37231457G>A	NCBI36
NG_016193.1:g.57950C>T
NG_016193.2:g.58108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.599C>T MANE Select	ENSP00000502087.2:p.Pro200Leu
ENST00000674895.2:c.158C>T	ENSP00000502087.1:p.Pro53Leu
ENST00000675057.1:c.158C>T	ENSP00000501832.1:p.Pro53Leu
ENST00000675307.1:c.158C>T	ENSP00000501750.1:p.Pro53Leu
ENST00000336648.8:c.158C>T	ENSP00000338387.3:p.Pro53Leu
ENST00000399120.5:c.158C>T	ENSP00000382071.1:p.Pro53Leu
ENST00000419461.5:c.158C>T	ENSP00000396370.1:p.Pro53Leu
ENST00000427746.1:c.158C>T	ENSP00000396443.1:p.Pro53Leu
ENST00000448340.5:c.158C>T	ENSP00000392923.1:p.Pro53Leu
ENST00000612277.4:c.158C>T	ENSP00000479939.1:p.Pro53Leu
NM_000411.6:c.158C>T	NP_000402.3:p.Pro53Leu
NM_001242784.1:c.158C>T	NP_001229713.1:p.Pro53Leu
NM_001242785.1:c.158C>T	NP_001229714.1:p.Pro53Leu
XM_005260953.2:c.599C>T	XP_005261010.1:p.Pro200Leu
XM_005260954.1:c.599C>T	XP_005261011.1:p.Pro200Leu
XM_005260955.2:c.158C>T	XP_005261012.1:p.Pro53Leu
XM_005260956.2:c.158C>T	XP_005261013.1:p.Pro53Leu
XM_006723994.1:c.158C>T	XP_006724057.1:p.Pro53Leu
XM_006723995.1:c.158C>T	XP_006724058.1:p.Pro53Leu
XM_011529538.1:c.158C>T	XP_011527840.1:p.Pro53Leu
XM_011529539.1:c.158C>T	XP_011527841.1:p.Pro53Leu
XM_011529540.1:c.599C>T	XP_011527842.1:p.Pro200Leu
XM_011529541.1:c.158C>T	XP_011527843.1:p.Pro53Leu
XM_011529542.1:c.599C>T	XP_011527844.1:p.Pro200Leu
NM_000411.7:c.158C>T	NP_000402.3:p.Pro53Leu
NM_001242784.2:c.158C>T	NP_001229713.1:p.Pro53Leu
NM_001242785.2:c.158C>T	NP_001229714.1:p.Pro53Leu
NM_001352514.1:c.599C>T	NP_001339443.1:p.Pro200Leu
NM_001352515.1:c.158C>T	NP_001339444.1:p.Pro53Leu
NM_001352516.1:c.158C>T	NP_001339445.1:p.Pro53Leu
NM_001352517.1:c.158C>T	NP_001339446.1:p.Pro53Leu
NM_001352518.1:c.158C>T	NP_001339447.1:p.Pro53Leu
NR_148020.1:n.641C>T
NR_148021.1:n.615C>T
XM_011529539.3:c.158C>T	XP_011527841.1:p.Pro53Leu
XM_011529540.2:c.599C>T	XP_011527842.1:p.Pro200Leu
XM_017028330.1:c.158C>T	XP_016883819.1:p.Pro53Leu
XM_024452065.1:c.-14C>T	XP_024307833.1:n.-14C>T
XM_024452066.1:c.-14C>T	XP_024307834.1:n.-14C>T
XR_001754835.1:n.600C>T
XR_001754836.1:n.600C>T
XR_001754837.2:n.600C>T
XR_001754840.1:n.600C>T
NM_000411.8:c.158C>T	NP_000402.3:p.Pro53Leu
NM_001242784.3:c.158C>T	NP_001229713.1:p.Pro53Leu
NM_001352514.2:c.599C>T MANE Select	NP_001339443.1:p.Pro200Leu
NM_001352515.2:c.158C>T	NP_001339444.1:p.Pro53Leu
NM_001352516.2:c.158C>T	NP_001339445.1:p.Pro53Leu
NR_148020.2:n.458C>T
NM_001352518.2:c.158C>T	NP_001339447.1:p.Pro53Leu