Canonical Allele Identifier: CA409919494

Gene: HLCS

Linked Data

• ClinVar Variation Id: 529441
• ClinVar RCV Id: RCV000634878
• dbSNP Id: rs1555882115
• MyVariant Identifiers: chr21:g.38129042C>T (hg19) ; chr21:g.36756741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36756741C>T , CM000683.2:g.36756741C>T	GRCh38
NC_000021.8:g.38129042C>T , CM000683.1:g.38129042C>T	GRCh37
NC_000021.7:g.37050912C>T	NCBI36
NG_016193.1:g.238495G>A
NG_016193.2:g.238654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.2251G>A MANE Select	ENSP00000502087.2:p.Val751Met
ENST00000674895.2:c.1810G>A	ENSP00000502087.1:p.Val604Met
ENST00000675057.1:c.*220G>A	ENSP00000501832.1:n.*220G>A
ENST00000675307.1:c.1810G>A	ENSP00000501750.1:p.Val604Met
ENST00000336648.8:c.1810G>A	ENSP00000338387.3:p.Val604Met
ENST00000399120.5:c.1810G>A	ENSP00000382071.1:p.Val604Met
ENST00000612277.4:c.1810G>A	ENSP00000479939.1:p.Val604Met
NM_000411.6:c.1810G>A	NP_000402.3:p.Val604Met
NM_001242784.1:c.1810G>A	NP_001229713.1:p.Val604Met
NM_001242785.1:c.1810G>A	NP_001229714.1:p.Val604Met
XM_005260953.2:c.2251G>A	XP_005261010.1:p.Val751Met
XM_005260955.2:c.1810G>A	XP_005261012.1:p.Val604Met
XM_005260956.2:c.1810G>A	XP_005261013.1:p.Val604Met
XM_006723994.1:c.1810G>A	XP_006724057.1:p.Val604Met
XM_006723995.1:c.1810G>A	XP_006724058.1:p.Val604Met
XM_011529538.1:c.1810G>A	XP_011527840.1:p.Val604Met
XM_011529539.1:c.1810G>A	XP_011527841.1:p.Val604Met
XM_011529541.1:c.1810G>A	XP_011527843.1:p.Val604Met
NM_000411.7:c.1810G>A	NP_000402.3:p.Val604Met
NM_001242784.2:c.1810G>A	NP_001229713.1:p.Val604Met
NM_001242785.2:c.1810G>A	NP_001229714.1:p.Val604Met
NM_001352514.1:c.2251G>A	NP_001339443.1:p.Val751Met
NM_001352515.1:c.1810G>A	NP_001339444.1:p.Val604Met
NM_001352516.1:c.1810G>A	NP_001339445.1:p.Val604Met
NM_001352517.1:c.1810G>A	NP_001339446.1:p.Val604Met
NM_001352518.1:c.1810G>A	NP_001339447.1:p.Val604Met
NR_148020.1:n.2518G>A
NR_148021.1:n.2492G>A
XM_011529539.3:c.1810G>A	XP_011527841.1:p.Val604Met
XM_017028330.1:c.1810G>A	XP_016883819.1:p.Val604Met
XM_024452065.1:c.1639G>A	XP_024307833.1:p.Val547Met
XM_024452066.1:c.1639G>A	XP_024307834.1:p.Val547Met
XR_001754835.1:n.2477G>A
XR_001754836.1:n.2091G>A
XR_001754840.1:n.2301G>A
NM_000411.8:c.1810G>A	NP_000402.3:p.Val604Met
NM_001242784.3:c.1810G>A	NP_001229713.1:p.Val604Met
NM_001352514.2:c.2251G>A MANE Select	NP_001339443.1:p.Val751Met
NM_001352515.2:c.1810G>A	NP_001339444.1:p.Val604Met
NM_001352516.2:c.1810G>A	NP_001339445.1:p.Val604Met
NR_148020.2:n.2335G>A
NM_001352518.2:c.1810G>A	NP_001339447.1:p.Val604Met