Canonical Allele Identifier: CA381585123

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2622860
• ClinVar RCV Id: RCV003383560
• dbSNP Id: rs1405124204
• gnomAD v2: 11-67816394-A-T
• gnomAD v4: 11-68048927-A-T
• MyVariant Identifiers: chr11:g.67816394A>T (hg19) ; chr11:g.68048927A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048927A>T , CM000673.2:g.68048927A>T	GRCh38
NC_000011.9:g.67816394A>T , CM000673.1:g.67816394A>T	GRCh37
NC_000011.8:g.67572970A>T	NCBI36
NG_007878.1:g.14912A>T , LRG_115:g.14912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.228A>T
ENST00000698254.1:c.1132A>T	ENSP00000513629.1:p.Met378Leu
ENST00000698255.1:c.1552A>T	ENSP00000513630.1:p.Met518Leu
ENST00000698256.1:c.1069A>T
ENST00000698257.1:n.1021A>T
ENST00000698258.1:n.738A>T
ENST00000698259.1:n.504A>T
ENST00000265686.8:c.1603A>T MANE Select	ENSP00000265686.3:p.Met535Leu
ENST00000265686.7:c.1603A>T	ENSP00000265686.3:p.Met535Leu
ENST00000525724.5:n.915A>T
ENST00000528981.5:c.755A>T
ENST00000532635.5:c.955A>T	ENSP00000434407.1:p.Met319Leu
ENST00000533005.5:n.716A>T
NM_006019.3:c.1603A>T	NP_006010.2:p.Met535Leu
NM_006053.3:c.955A>T	NP_006044.1:p.Met319Leu
XM_005273709.2:c.1603A>T	XP_005273766.1:p.Met535Leu
XM_011544726.1:c.1603A>T	XP_011543028.1:p.Met535Leu
XM_011544727.1:c.1603A>T	XP_011543029.1:p.Met535Leu
XM_011544728.1:c.1603A>T	XP_011543030.1:p.Met535Leu
XR_949754.1:n.1607A>T
NM_001351059.1:c.709A>T	NP_001337988.1:p.Met237Leu
XM_024448320.1:c.1696A>T	XP_024304088.1:p.Met566Leu
XM_024448321.1:c.1696A>T	XP_024304089.1:p.Met566Leu
XM_024448322.1:c.1696A>T	XP_024304090.1:p.Met566Leu
XM_024448323.1:c.1696A>T	XP_024304091.1:p.Met566Leu
XM_024448324.1:c.1696A>T	XP_024304092.1:p.Met566Leu
XR_001747721.2:n.1727A>T
XR_001747722.1:n.1740A>T
XR_001747723.2:n.1740A>T
XR_002957115.1:n.1818A>T
NM_006019.4:c.1603A>T MANE Select	NP_006010.2:p.Met535Leu
NM_001351059.2:c.709A>T	NP_001337988.1:p.Met237Leu
NM_006053.4:c.955A>T	NP_006044.1:p.Met319Leu