Canonical Allele Identifier: CA409919509

Gene: HLCS

Linked Data

• MyVariant Identifiers: chr21:g.38129046A>C (hg19) ; chr21:g.36756745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36756745A>C , CM000683.2:g.36756745A>C	GRCh38
NC_000021.8:g.38129046A>C , CM000683.1:g.38129046A>C	GRCh37
NC_000021.7:g.37050916A>C	NCBI36
NG_016193.1:g.238491T>G
NG_016193.2:g.238650T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000674895.3:c.2247T>G MANE Select	ENSP00000502087.2:p.Phe749Leu
ENST00000674895.2:c.1806T>G	ENSP00000502087.1:p.Phe602Leu
ENST00000675057.1:c.*216T>G	ENSP00000501832.1:n.*216T>G
ENST00000675307.1:c.1806T>G	ENSP00000501750.1:p.Phe602Leu
ENST00000336648.8:c.1806T>G	ENSP00000338387.3:p.Phe602Leu
ENST00000399120.5:c.1806T>G	ENSP00000382071.1:p.Phe602Leu
ENST00000612277.4:c.1806T>G	ENSP00000479939.1:p.Phe602Leu
NM_000411.6:c.1806T>G	NP_000402.3:p.Phe602Leu
NM_001242784.1:c.1806T>G	NP_001229713.1:p.Phe602Leu
NM_001242785.1:c.1806T>G	NP_001229714.1:p.Phe602Leu
XM_005260953.2:c.2247T>G	XP_005261010.1:p.Phe749Leu
XM_005260955.2:c.1806T>G	XP_005261012.1:p.Phe602Leu
XM_005260956.2:c.1806T>G	XP_005261013.1:p.Phe602Leu
XM_006723994.1:c.1806T>G	XP_006724057.1:p.Phe602Leu
XM_006723995.1:c.1806T>G	XP_006724058.1:p.Phe602Leu
XM_011529538.1:c.1806T>G	XP_011527840.1:p.Phe602Leu
XM_011529539.1:c.1806T>G	XP_011527841.1:p.Phe602Leu
XM_011529541.1:c.1806T>G	XP_011527843.1:p.Phe602Leu
NM_000411.7:c.1806T>G	NP_000402.3:p.Phe602Leu
NM_001242784.2:c.1806T>G	NP_001229713.1:p.Phe602Leu
NM_001242785.2:c.1806T>G	NP_001229714.1:p.Phe602Leu
NM_001352514.1:c.2247T>G	NP_001339443.1:p.Phe749Leu
NM_001352515.1:c.1806T>G	NP_001339444.1:p.Phe602Leu
NM_001352516.1:c.1806T>G	NP_001339445.1:p.Phe602Leu
NM_001352517.1:c.1806T>G	NP_001339446.1:p.Phe602Leu
NM_001352518.1:c.1806T>G	NP_001339447.1:p.Phe602Leu
NR_148020.1:n.2514T>G
NR_148021.1:n.2488T>G
XM_011529539.3:c.1806T>G	XP_011527841.1:p.Phe602Leu
XM_017028330.1:c.1806T>G	XP_016883819.1:p.Phe602Leu
XM_024452065.1:c.1635T>G	XP_024307833.1:p.Phe545Leu
XM_024452066.1:c.1635T>G	XP_024307834.1:p.Phe545Leu
XR_001754835.1:n.2473T>G
XR_001754836.1:n.2087T>G
XR_001754840.1:n.2297T>G
NM_000411.8:c.1806T>G	NP_000402.3:p.Phe602Leu
NM_001242784.3:c.1806T>G	NP_001229713.1:p.Phe602Leu
NM_001352514.2:c.2247T>G MANE Select	NP_001339443.1:p.Phe749Leu
NM_001352515.2:c.1806T>G	NP_001339444.1:p.Phe602Leu
NM_001352516.2:c.1806T>G	NP_001339445.1:p.Phe602Leu
NR_148020.2:n.2331T>G
NM_001352518.2:c.1806T>G	NP_001339447.1:p.Phe602Leu