Canonical Allele Identifier: CA381584440

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2151108
• ClinVar RCV Id: RCV003067908
• MyVariant Identifiers: chr11:g.67815357T>C (hg19) ; chr11:g.68047890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047890T>C , CM000673.2:g.68047890T>C	GRCh38
NC_000011.9:g.67815357T>C , CM000673.1:g.67815357T>C	GRCh37
NC_000011.8:g.67571933T>C	NCBI36
NG_007878.1:g.13875T>C , LRG_115:g.13875T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.97T>C
ENST00000698254.1:c.1001T>C	ENSP00000513629.1:p.Phe334Ser
ENST00000698255.1:c.1421T>C	ENSP00000513630.1:p.Phe474Ser
ENST00000698256.1:c.938T>C
ENST00000698257.1:n.890T>C
ENST00000698258.1:n.607T>C
ENST00000698259.1:n.373T>C
ENST00000265686.8:c.1472T>C MANE Select	ENSP00000265686.3:p.Phe491Ser
ENST00000265686.7:c.1472T>C	ENSP00000265686.3:p.Phe491Ser
ENST00000525516.1:n.266T>C
ENST00000525724.5:n.784T>C
ENST00000528981.5:c.624T>C
ENST00000532635.5:c.824T>C	ENSP00000434407.1:p.Phe275Ser
ENST00000533005.5:n.585T>C
NM_006019.3:c.1472T>C	NP_006010.2:p.Phe491Ser
NM_006053.3:c.824T>C	NP_006044.1:p.Phe275Ser
XM_005273709.2:c.1472T>C	XP_005273766.1:p.Phe491Ser
XM_011544726.1:c.1472T>C	XP_011543028.1:p.Phe491Ser
XM_011544727.1:c.1472T>C	XP_011543029.1:p.Phe491Ser
XM_011544728.1:c.1472T>C	XP_011543030.1:p.Phe491Ser
XM_011544729.1:c.*6T>C	XP_011543031.1:n.*6T>C
XR_949754.1:n.1476T>C
NM_001351059.1:c.578T>C	NP_001337988.1:p.Phe193Ser
XM_024448320.1:c.1565T>C	XP_024304088.1:p.Phe522Ser
XM_024448321.1:c.1565T>C	XP_024304089.1:p.Phe522Ser
XM_024448322.1:c.1565T>C	XP_024304090.1:p.Phe522Ser
XM_024448323.1:c.1565T>C	XP_024304091.1:p.Phe522Ser
XM_024448324.1:c.1565T>C	XP_024304092.1:p.Phe522Ser
XR_001747721.2:n.1596T>C
XR_001747722.1:n.1609T>C
XR_001747723.2:n.1609T>C
XR_002957115.1:n.1687T>C
NM_006019.4:c.1472T>C MANE Select	NP_006010.2:p.Phe491Ser
NM_001351059.2:c.578T>C	NP_001337988.1:p.Phe193Ser
NM_006053.4:c.824T>C	NP_006044.1:p.Phe275Ser