Canonical Allele Identifier: CA15360265
Gene: TBC1D1 HGNC NCBI

Linked Data

dbSNP Id: rs10010758
gnomAD v2: 4-37938518-T-C
gnomAD v3: 4-37936897-T-C
gnomAD v4: 4-37936897-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.37936897T>C , CM000666.2:g.37936897T>C GRCh38
NC_000004.11:g.37938518T>C , CM000666.1:g.37938518T>C GRCh37
NC_000004.10:g.37614913T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000698857.1:c.417+34385T>C MANE Select ENSP00000513987.1:n.417+34385T>C
ENST00000698858.1:n.466+26537T>C
ENST00000261439.9:c.417+34385T>C ENSP00000261439.4:n.417+34385T>C
ENST00000261439.8:c.417+34385T>C ENSP00000261439.4:n.417+34385T>C
ENST00000402522.1:c.418-15109T>C ENSP00000383994.1:n.418-15109T>C
ENST00000508802.5:c.417+34385T>C ENSP00000423651.1:n.417+34385T>C
ENST00000615497.4:c.-267+34490T>C ENSP00000478039.1:n.-267+34490T>C
NM_001253912.1:c.417+34385T>C NP_001240841.1:n.417+34385T>C
NM_015173.3:c.417+34385T>C NP_055988.2:n.417+34385T>C
XM_005262646.1:c.417+34385T>C XP_005262703.1:n.417+34385T>C
XM_005262647.1:c.417+34385T>C XP_005262704.1:n.417+34385T>C
XM_011513659.1:c.417+34385T>C XP_011511961.1:n.417+34385T>C
XM_011513660.1:c.417+34385T>C XP_011511962.1:n.417+34385T>C
XM_011513661.1:c.417+34385T>C XP_011511963.1:n.417+34385T>C
XM_011513662.1:c.417+34385T>C XP_011511964.1:n.417+34385T>C
XM_011513663.1:c.417+34385T>C XP_011511965.1:n.417+34385T>C
XM_011513664.1:c.417+34385T>C XP_011511966.1:n.417+34385T>C
XM_011513665.1:c.417+34385T>C XP_011511967.1:n.417+34385T>C
XM_011513666.1:c.417+34385T>C XP_011511968.1:n.417+34385T>C
XM_011513667.1:c.417+34385T>C XP_011511969.1:n.417+34385T>C
XM_011513668.1:c.417+34385T>C XP_011511970.1:n.417+34385T>C
XR_925212.1:n.778+6915T>C
XM_005262646.3:c.417+34385T>C XP_005262703.1:n.417+34385T>C
XM_005262647.3:c.417+34385T>C XP_005262704.1:n.417+34385T>C
XM_011513659.2:c.417+34385T>C XP_011511961.1:n.417+34385T>C
XM_011513660.3:c.417+34385T>C XP_011511962.1:n.417+34385T>C
XM_011513662.3:c.417+34385T>C XP_011511964.1:n.417+34385T>C
XM_011513663.3:c.417+34385T>C XP_011511965.1:n.417+34385T>C
XM_011513664.3:c.417+34385T>C XP_011511966.1:n.417+34385T>C
XM_011513665.3:c.417+34385T>C XP_011511967.1:n.417+34385T>C
XM_011513666.3:c.417+34385T>C XP_011511968.1:n.417+34385T>C
XM_011513668.2:c.417+34385T>C XP_011511970.1:n.417+34385T>C
XM_017007918.2:c.417+34385T>C XP_016863407.1:n.417+34385T>C
XM_017007919.2:c.417+34385T>C XP_016863408.1:n.417+34385T>C
XM_017007920.2:c.417+34385T>C XP_016863409.1:n.417+34385T>C
XM_017007922.1:c.417+34385T>C XP_016863411.1:n.417+34385T>C
XR_001741181.1:n.775+34385T>C
XR_925212.3:n.6085+6915T>C
NM_015173.4:c.417+34385T>C NP_055988.2:n.417+34385T>C
NM_001253912.2:c.417+34385T>C NP_001240841.1:n.417+34385T>C
NM_001396959.1:c.417+34385T>C MANE Select NP_001383888.1:n.417+34385T>C