Canonical Allele Identifier: CA6147157

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 975009
• ClinVar RCV Id: RCV001251405 ; RCV001375862 ; RCV001814292 ; RCV002570450
• dbSNP Id: rs369264588
• ExAC: 11:67815434 G / A
• gnomAD v2: 11-67815434-G-A
• gnomAD v3: 11-68047967-G-A
• gnomAD v4: 11-68047967-G-A
• MyVariant Identifiers: chr11:g.67815434G>A (hg19) ; chr11:g.68047967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047967G>A , CM000673.2:g.68047967G>A	GRCh38
NC_000011.9:g.67815434G>A , CM000673.1:g.67815434G>A	GRCh37
NC_000011.8:g.67572010G>A	NCBI36
NG_007878.1:g.13952G>A , LRG_115:g.13952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.174G>A
ENST00000698254.1:c.1078G>A	ENSP00000513629.1:p.Asp360Asn
ENST00000698255.1:c.1498G>A	ENSP00000513630.1:p.Asp500Asn
ENST00000698256.1:c.1015G>A
ENST00000698257.1:n.967G>A
ENST00000698258.1:n.684G>A
ENST00000698259.1:n.450G>A
ENST00000265686.8:c.1549G>A MANE Select	ENSP00000265686.3:p.Asp517Asn
ENST00000265686.7:c.1549G>A	ENSP00000265686.3:p.Asp517Asn
ENST00000525516.1:n.343G>A
ENST00000525724.5:n.861G>A
ENST00000528981.5:c.701G>A
ENST00000532635.5:c.901G>A	ENSP00000434407.1:p.Asp301Asn
ENST00000533005.5:n.662G>A
NM_006019.3:c.1549G>A	NP_006010.2:p.Asp517Asn
NM_006053.3:c.901G>A	NP_006044.1:p.Asp301Asn
XM_005273709.2:c.1549G>A	XP_005273766.1:p.Asp517Asn
XM_011544726.1:c.1549G>A	XP_011543028.1:p.Asp517Asn
XM_011544727.1:c.1549G>A	XP_011543029.1:p.Asp517Asn
XM_011544728.1:c.1549G>A	XP_011543030.1:p.Asp517Asn
XR_949754.1:n.1553G>A
NM_001351059.1:c.655G>A	NP_001337988.1:p.Asp219Asn
XM_024448320.1:c.1642G>A	XP_024304088.1:p.Asp548Asn
XM_024448321.1:c.1642G>A	XP_024304089.1:p.Asp548Asn
XM_024448322.1:c.1642G>A	XP_024304090.1:p.Asp548Asn
XM_024448323.1:c.1642G>A	XP_024304091.1:p.Asp548Asn
XM_024448324.1:c.1642G>A	XP_024304092.1:p.Asp548Asn
XR_001747721.2:n.1673G>A
XR_001747722.1:n.1686G>A
XR_001747723.2:n.1686G>A
XR_002957115.1:n.1764G>A
NM_006019.4:c.1549G>A MANE Select	NP_006010.2:p.Asp517Asn
NM_001351059.2:c.655G>A	NP_001337988.1:p.Asp219Asn
NM_006053.4:c.901G>A	NP_006044.1:p.Asp301Asn