Canonical Allele Identifier: CA794548499

Gene: TBC1D1

Linked Data

• dbSNP Id: rs1184669003
• gnomAD v3: 4-37936890-G-T
• gnomAD v4: 4-37936890-G-T
• MyVariant Identifiers: chr4:g.37938511G>T (hg19) ; chr4:g.37936890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.37936890G>T , CM000666.2:g.37936890G>T	GRCh38
NC_000004.11:g.37938511G>T , CM000666.1:g.37938511G>T	GRCh37
NC_000004.10:g.37614906G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698857.1:c.417+34378G>T MANE Select	ENSP00000513987.1:n.417+34378G>T
ENST00000698858.1:n.466+26530G>T
ENST00000261439.9:c.417+34378G>T	ENSP00000261439.4:n.417+34378G>T
ENST00000261439.8:c.417+34378G>T	ENSP00000261439.4:n.417+34378G>T
ENST00000402522.1:c.418-15116G>T	ENSP00000383994.1:n.418-15116G>T
ENST00000508802.5:c.417+34378G>T	ENSP00000423651.1:n.417+34378G>T
ENST00000615497.4:c.-267+34483G>T	ENSP00000478039.1:n.-267+34483G>T
NM_001253912.1:c.417+34378G>T	NP_001240841.1:n.417+34378G>T
NM_015173.3:c.417+34378G>T	NP_055988.2:n.417+34378G>T
XM_005262646.1:c.417+34378G>T	XP_005262703.1:n.417+34378G>T
XM_005262647.1:c.417+34378G>T	XP_005262704.1:n.417+34378G>T
XM_011513659.1:c.417+34378G>T	XP_011511961.1:n.417+34378G>T
XM_011513660.1:c.417+34378G>T	XP_011511962.1:n.417+34378G>T
XM_011513661.1:c.417+34378G>T	XP_011511963.1:n.417+34378G>T
XM_011513662.1:c.417+34378G>T	XP_011511964.1:n.417+34378G>T
XM_011513663.1:c.417+34378G>T	XP_011511965.1:n.417+34378G>T
XM_011513664.1:c.417+34378G>T	XP_011511966.1:n.417+34378G>T
XM_011513665.1:c.417+34378G>T	XP_011511967.1:n.417+34378G>T
XM_011513666.1:c.417+34378G>T	XP_011511968.1:n.417+34378G>T
XM_011513667.1:c.417+34378G>T	XP_011511969.1:n.417+34378G>T
XM_011513668.1:c.417+34378G>T	XP_011511970.1:n.417+34378G>T
XR_925212.1:n.778+6908G>T
XM_005262646.3:c.417+34378G>T	XP_005262703.1:n.417+34378G>T
XM_005262647.3:c.417+34378G>T	XP_005262704.1:n.417+34378G>T
XM_011513659.2:c.417+34378G>T	XP_011511961.1:n.417+34378G>T
XM_011513660.3:c.417+34378G>T	XP_011511962.1:n.417+34378G>T
XM_011513662.3:c.417+34378G>T	XP_011511964.1:n.417+34378G>T
XM_011513663.3:c.417+34378G>T	XP_011511965.1:n.417+34378G>T
XM_011513664.3:c.417+34378G>T	XP_011511966.1:n.417+34378G>T
XM_011513665.3:c.417+34378G>T	XP_011511967.1:n.417+34378G>T
XM_011513666.3:c.417+34378G>T	XP_011511968.1:n.417+34378G>T
XM_011513668.2:c.417+34378G>T	XP_011511970.1:n.417+34378G>T
XM_017007918.2:c.417+34378G>T	XP_016863407.1:n.417+34378G>T
XM_017007919.2:c.417+34378G>T	XP_016863408.1:n.417+34378G>T
XM_017007920.2:c.417+34378G>T	XP_016863409.1:n.417+34378G>T
XM_017007922.1:c.417+34378G>T	XP_016863411.1:n.417+34378G>T
XR_001741181.1:n.775+34378G>T
XR_925212.3:n.6085+6908G>T
NM_015173.4:c.417+34378G>T	NP_055988.2:n.417+34378G>T
NM_001253912.2:c.417+34378G>T	NP_001240841.1:n.417+34378G>T
NM_001396959.1:c.417+34378G>T MANE Select	NP_001383888.1:n.417+34378G>T