Canonical Allele Identifier: CA414229153

Gene: CHRDL1

Linked Data

• COSMIC: COSM6315240
• MyVariant Identifiers: chrX:g.109931850G>T (hg19) ; chrX:g.110688622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110688622G>T , CM000685.2:g.110688622G>T	GRCh38
NC_000023.10:g.109931850G>T , CM000685.1:g.109931850G>T	GRCh37
NC_000023.9:g.109818506G>T	NCBI36
NG_012816.1:g.112437C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372042.6:c.960C>A MANE Select	ENSP00000361112.1:p.Cys320Ter
ENST00000372042.5:c.960C>A	ENSP00000361112.1:p.Cys320Ter
ENST00000372045.5:c.939C>A	ENSP00000361115.1:p.Cys313Ter
ENST00000394797.8:c.957C>A	ENSP00000378276.4:p.Cys319Ter
ENST00000444321.2:c.957C>A	ENSP00000399739.2:p.Cys319Ter
ENST00000482160.5:c.720C>A	ENSP00000418443.1:p.Cys240Ter
NM_001143981.1:c.960C>A	NP_001137453.1:p.Cys320Ter
NM_001143982.1:c.957C>A	NP_001137454.1:p.Cys319Ter
NM_001143983.2:c.720C>A	NP_001137455.2:p.Cys240Ter
NM_145234.3:c.957C>A	NP_660277.2:p.Cys319Ter
XM_005262221.1:c.960C>A	XP_005262278.1:p.Cys320Ter
XM_005262222.3:c.957C>A	XP_005262279.1:p.Cys319Ter
XM_005262223.1:c.960C>A	XP_005262280.1:p.Cys320Ter
XM_005262224.1:c.957C>A	XP_005262281.1:p.Cys319Ter
XM_017029959.1:c.960C>A	XP_016885448.1:p.Cys320Ter
NM_001367204.1:c.960C>A	NP_001354133.1:p.Cys320Ter
NM_001367205.1:c.960C>A	NP_001354134.1:p.Cys320Ter
NM_001367206.1:c.960C>A	NP_001354135.1:p.Cys320Ter
NM_001367207.1:c.957C>A	NP_001354136.1:p.Cys319Ter
NM_001367208.1:c.960C>A	NP_001354137.1:p.Cys320Ter
NM_001367209.1:c.960C>A	NP_001354138.1:p.Cys320Ter
NR_159734.1:n.1223C>A
NM_001143981.2:c.960C>A MANE Select	NP_001137453.1:p.Cys320Ter
NM_001143982.2:c.957C>A	NP_001137454.1:p.Cys319Ter
NM_001143983.3:c.720C>A	NP_001137455.2:p.Cys240Ter
NM_145234.4:c.957C>A	NP_660277.2:p.Cys319Ter