Canonical Allele Identifier: CA6147196

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 991174
• ClinVar RCV Id: RCV001279341
• dbSNP Id: rs376351835
• ExAC: 11:67816378 C / A
• gnomAD v2: 11-67816378-C-A
• gnomAD v3: 11-68048911-C-A
• gnomAD v4: 11-68048911-C-A
• MyVariant Identifiers: chr11:g.67816378C>A (hg19) ; chr11:g.68048911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048911C>A , CM000673.2:g.68048911C>A	GRCh38
NC_000011.9:g.67816378C>A , CM000673.1:g.67816378C>A	GRCh37
NC_000011.8:g.67572954C>A	NCBI36
NG_007878.1:g.14896C>A , LRG_115:g.14896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.212C>A
ENST00000698254.1:c.1116C>A	ENSP00000513629.1:p.Phe372Leu
ENST00000698255.1:c.1536C>A	ENSP00000513630.1:p.Phe512Leu
ENST00000698256.1:c.1053C>A
ENST00000698257.1:n.1005C>A
ENST00000698258.1:n.722C>A
ENST00000698259.1:n.488C>A
ENST00000265686.8:c.1587C>A MANE Select	ENSP00000265686.3:p.Phe529Leu
ENST00000265686.7:c.1587C>A	ENSP00000265686.3:p.Phe529Leu
ENST00000525724.5:n.899C>A
ENST00000528981.5:c.739C>A
ENST00000532635.5:c.939C>A	ENSP00000434407.1:p.Phe313Leu
ENST00000533005.5:n.700C>A
NM_006019.3:c.1587C>A	NP_006010.2:p.Phe529Leu
NM_006053.3:c.939C>A	NP_006044.1:p.Phe313Leu
XM_005273709.2:c.1587C>A	XP_005273766.1:p.Phe529Leu
XM_011544726.1:c.1587C>A	XP_011543028.1:p.Phe529Leu
XM_011544727.1:c.1587C>A	XP_011543029.1:p.Phe529Leu
XM_011544728.1:c.1587C>A	XP_011543030.1:p.Phe529Leu
XR_949754.1:n.1591C>A
NM_001351059.1:c.693C>A	NP_001337988.1:p.Phe231Leu
XM_024448320.1:c.1680C>A	XP_024304088.1:p.Phe560Leu
XM_024448321.1:c.1680C>A	XP_024304089.1:p.Phe560Leu
XM_024448322.1:c.1680C>A	XP_024304090.1:p.Phe560Leu
XM_024448323.1:c.1680C>A	XP_024304091.1:p.Phe560Leu
XM_024448324.1:c.1680C>A	XP_024304092.1:p.Phe560Leu
XR_001747721.2:n.1711C>A
XR_001747722.1:n.1724C>A
XR_001747723.2:n.1724C>A
XR_002957115.1:n.1802C>A
NM_006019.4:c.1587C>A MANE Select	NP_006010.2:p.Phe529Leu
NM_001351059.2:c.693C>A	NP_001337988.1:p.Phe231Leu
NM_006053.4:c.939C>A	NP_006044.1:p.Phe313Leu