Canonical Allele Identifier: CA224208697

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2313854
• ClinVar RCV Id: RCV002905133
• dbSNP Id: rs1046252307
• gnomAD v4: 11-68047949-C-A
• MyVariant Identifiers: chr11:g.67815416C>A (hg19) ; chr11:g.68047949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047949C>A , CM000673.2:g.68047949C>A	GRCh38
NC_000011.9:g.67815416C>A , CM000673.1:g.67815416C>A	GRCh37
NC_000011.8:g.67571992C>A	NCBI36
NG_007878.1:g.13934C>A , LRG_115:g.13934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.156C>A
ENST00000698254.1:c.1060C>A	ENSP00000513629.1:p.Pro354Thr
ENST00000698255.1:c.1480C>A	ENSP00000513630.1:p.Pro494Thr
ENST00000698256.1:c.997C>A
ENST00000698257.1:n.949C>A
ENST00000698258.1:n.666C>A
ENST00000698259.1:n.432C>A
ENST00000265686.8:c.1531C>A MANE Select	ENSP00000265686.3:p.Pro511Thr
ENST00000265686.7:c.1531C>A	ENSP00000265686.3:p.Pro511Thr
ENST00000525516.1:n.325C>A
ENST00000525724.5:n.843C>A
ENST00000528981.5:c.683C>A
ENST00000532635.5:c.883C>A	ENSP00000434407.1:p.Pro295Thr
ENST00000533005.5:n.644C>A
NM_006019.3:c.1531C>A	NP_006010.2:p.Pro511Thr
NM_006053.3:c.883C>A	NP_006044.1:p.Pro295Thr
XM_005273709.2:c.1531C>A	XP_005273766.1:p.Pro511Thr
XM_011544726.1:c.1531C>A	XP_011543028.1:p.Pro511Thr
XM_011544727.1:c.1531C>A	XP_011543029.1:p.Pro511Thr
XM_011544728.1:c.1531C>A	XP_011543030.1:p.Pro511Thr
XR_949754.1:n.1535C>A
NM_001351059.1:c.637C>A	NP_001337988.1:p.Pro213Thr
XM_024448320.1:c.1624C>A	XP_024304088.1:p.Pro542Thr
XM_024448321.1:c.1624C>A	XP_024304089.1:p.Pro542Thr
XM_024448322.1:c.1624C>A	XP_024304090.1:p.Pro542Thr
XM_024448323.1:c.1624C>A	XP_024304091.1:p.Pro542Thr
XM_024448324.1:c.1624C>A	XP_024304092.1:p.Pro542Thr
XR_001747721.2:n.1655C>A
XR_001747722.1:n.1668C>A
XR_001747723.2:n.1668C>A
XR_002957115.1:n.1746C>A
NM_006019.4:c.1531C>A MANE Select	NP_006010.2:p.Pro511Thr
NM_001351059.2:c.637C>A	NP_001337988.1:p.Pro213Thr
NM_006053.4:c.883C>A	NP_006044.1:p.Pro295Thr