Canonical Allele Identifier: CA6147112

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1080959
• ClinVar RCV Id: RCV001396791
• dbSNP Id: rs549533914
• ExAC: 11:67815280 C / T
• gnomAD v2: 11-67815280-C-T
• gnomAD v3: 11-68047813-C-T
• gnomAD v4: 11-68047813-C-T
• MyVariant Identifiers: chr11:g.67815280C>T (hg19) ; chr11:g.68047813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047813C>T , CM000673.2:g.68047813C>T	GRCh38
NC_000011.9:g.67815280C>T , CM000673.1:g.67815280C>T	GRCh37
NC_000011.8:g.67571856C>T	NCBI36
NG_007878.1:g.13798C>T , LRG_115:g.13798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.88+9C>T
ENST00000698254.1:c.992+9C>T	ENSP00000513629.1:n.992+9C>T
ENST00000698255.1:c.1412+9C>T	ENSP00000513630.1:n.1412+9C>T
ENST00000698256.1:c.929+9C>T
ENST00000698257.1:n.881+9C>T
ENST00000698258.1:n.530C>T
ENST00000698259.1:n.296C>T
ENST00000265686.8:c.1463+9C>T MANE Select	ENSP00000265686.3:n.1463+9C>T
ENST00000265686.7:c.1463+9C>T	ENSP00000265686.3:n.1463+9C>T
ENST00000525516.1:n.257+9C>T
ENST00000525724.5:n.775+9C>T
ENST00000528981.5:c.615+9C>T
ENST00000532635.5:c.815+9C>T	ENSP00000434407.1:n.815+9C>T
ENST00000533005.5:n.508C>T
NM_006019.3:c.1463+9C>T	NP_006010.2:n.1463+9C>T
NM_006053.3:c.815+9C>T	NP_006044.1:n.815+9C>T
XM_005273709.2:c.1463+9C>T	XP_005273766.1:n.1463+9C>T
XM_011544726.1:c.1463+9C>T	XP_011543028.1:n.1463+9C>T
XM_011544727.1:c.1463+9C>T	XP_011543029.1:n.1463+9C>T
XM_011544728.1:c.1463+9C>T	XP_011543030.1:n.1463+9C>T
XM_011544729.1:c.1479+9C>T	XP_011543031.1:n.1479+9C>T
XR_949754.1:n.1467+9C>T
NM_001351059.1:c.569+9C>T	NP_001337988.1:n.569+9C>T
XM_024448320.1:c.1488C>T	XP_024304088.1:p.Pro496=
XM_024448321.1:c.1488C>T	XP_024304089.1:p.Pro496=
XM_024448322.1:c.1488C>T	XP_024304090.1:p.Pro496=
XM_024448323.1:c.1488C>T	XP_024304091.1:p.Pro496=
XM_024448324.1:c.1488C>T	XP_024304092.1:p.Pro496=
XR_001747721.2:n.1587+9C>T
XR_001747722.1:n.1600+9C>T
XR_001747723.2:n.1600+9C>T
XR_002957115.1:n.1610C>T
NM_006019.4:c.1463+9C>T MANE Select	NP_006010.2:n.1463+9C>T
NM_001351059.2:c.569+9C>T	NP_001337988.1:n.569+9C>T
NM_006053.4:c.815+9C>T	NP_006044.1:n.815+9C>T