Canonical Allele Identifier: CA484056329

Gene: TBC1D4

Linked Data

• dbSNP Id: rs1220012077
• gnomAD v2: 13-75884117-A-G
• gnomAD v4: 13-75309981-A-G
• MyVariant Identifiers: chr13:g.75884117A>G (hg19) ; chr13:g.75309981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75309981A>G , CM000675.2:g.75309981A>G	GRCh38
NC_000013.10:g.75884117A>G , CM000675.1:g.75884117A>G	GRCh37
NC_000013.9:g.74782118A>G	NCBI36
NG_042850.1:g.177188T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000377636.8:c.2554T>C MANE Select	ENSP00000366863.3:p.Leu852=
ENST00000648194.1:c.1822T>C	ENSP00000496983.1:p.Leu608=
ENST00000377625.6:c.2365T>C	ENSP00000366852.2:p.Leu789=
ENST00000377636.7:c.2554T>C	ENSP00000366863.3:p.Leu852=
ENST00000431480.6:c.2530T>C	ENSP00000395986.2:p.Leu844=
ENST00000493487.1:n.413T>C
NM_001286658.1:c.2530T>C	NP_001273587.1:p.Leu844=
NM_001286658.2:c.2530T>C	NP_001273587.1:p.Leu844=
NM_001286659.1:c.2365T>C	NP_001273588.1:p.Leu789=
NM_001286659.2:c.2365T>C	NP_001273588.1:p.Leu789=
NM_014832.3:c.2554T>C	NP_055647.2:p.Leu852=
NM_014832.4:c.2554T>C	NP_055647.2:p.Leu852=
XM_005266603.1:c.2479T>C	XP_005266660.1:p.Leu827=
XM_005266605.1:c.2011T>C	XP_005266662.1:p.Leu671=
XM_006719903.2:c.2080T>C	XP_006719966.1:p.Leu694=
XM_011535331.1:c.2443T>C	XP_011533633.1:p.Leu815=
XM_005266603.2:c.2479T>C	XP_005266660.1:p.Leu827=
XM_005266605.3:c.2011T>C	XP_005266662.1:p.Leu671=
XM_006719903.3:c.2080T>C	XP_006719966.1:p.Leu694=
XM_011535331.2:c.2443T>C	XP_011533633.1:p.Leu815=
XM_017020882.2:c.1822T>C	XP_016876371.1:p.Leu608=
XM_017020883.2:c.1711T>C	XP_016876372.1:p.Leu571=
XM_017020884.2:c.121T>C	XP_016876373.1:p.Leu41=
NM_014832.5:c.2554T>C MANE Select	NP_055647.2:p.Leu852=