Canonical Allele Identifier: CA10305978

Gene: TRABD

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50198092G>A , CM000684.2:g.50198092G>A	GRCh38
NC_000022.10:g.50636521G>A , CM000684.1:g.50636521G>A	GRCh37
NC_000022.9:g.48978648G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380909.9:c.862G>A MANE Select	ENSP00000370295.4:p.Val288Ile
ENST00000303434.8:c.862G>A	ENSP00000305664.4:p.Val288Ile
ENST00000380909.8:c.862G>A	ENSP00000370295.4:p.Val288Ile
ENST00000395827.5:c.862G>A	ENSP00000379171.1:p.Val288Ile
ENST00000395829.1:c.862G>A	ENSP00000379173.1:p.Val288Ile
ENST00000463233.1:n.1059G>A
ENST00000472677.1:n.1200G>A
NM_025204.2:c.862G>A	NP_079480.2:p.Val288Ile
XM_006724422.2:c.862G>A	XP_006724485.1:p.Val288Ile
XM_006724423.2:c.862G>A	XP_006724486.1:p.Val288Ile
XM_006724425.2:c.1042G>A	XP_006724488.2:p.Val348Ile
XM_011530712.1:c.1054G>A	XP_011529014.1:p.Val352Ile
XM_011530713.1:c.1054G>A	XP_011529015.1:p.Val352Ile
XM_011530714.1:c.1042G>A	XP_011529016.1:p.Val348Ile
XM_011530715.1:c.1054G>A	XP_011529017.1:p.Val352Ile
XM_011530716.1:c.874G>A	XP_011529018.1:p.Val292Ile
XM_011530717.1:c.874G>A	XP_011529019.1:p.Val292Ile
XM_011530718.1:c.874G>A	XP_011529020.1:p.Val292Ile
XR_430482.2:n.964G>A
XR_938345.1:n.1065G>A
XR_938346.1:n.1053G>A
NM_001320484.1:c.874G>A	NP_001307413.1:p.Val292Ile
NM_001320485.1:c.862G>A	NP_001307414.1:p.Val288Ile
NM_001320487.1:c.862G>A	NP_001307416.1:p.Val288Ile
NM_001320488.1:c.862G>A	NP_001307417.1:p.Val288Ile
NM_025204.3:c.862G>A	NP_079480.2:p.Val288Ile
NR_135275.1:n.957G>A
XM_006724422.3:c.862G>A	XP_006724485.1:p.Val288Ile
XM_006724423.3:c.862G>A	XP_006724486.1:p.Val288Ile
XM_011530712.2:c.874G>A	XP_011529014.2:p.Val292Ile
XM_011530713.3:c.874G>A	XP_011529015.2:p.Val292Ile
XM_011530715.2:c.874G>A	XP_011529017.2:p.Val292Ile
XM_011530716.2:c.874G>A	XP_011529018.1:p.Val292Ile
XM_011530717.2:c.874G>A	XP_011529019.1:p.Val292Ile
XM_011530718.2:c.874G>A	XP_011529020.1:p.Val292Ile
XM_017028943.1:c.874G>A	XP_016884432.1:p.Val292Ile
XM_017028944.1:c.862G>A	XP_016884433.1:p.Val288Ile
XM_024452272.1:c.874G>A	XP_024308040.1:p.Val292Ile
XM_024452273.1:c.862G>A	XP_024308041.1:p.Val288Ile
XR_001755302.1:n.1105G>A
XR_001755303.2:n.1083G>A
XR_002958713.1:n.1082G>A
XR_938345.2:n.1026G>A
XR_938346.3:n.1004G>A
NM_001320484.2:c.874G>A	NP_001307413.1:p.Val292Ile
NM_001320485.2:c.862G>A MANE Select	NP_001307414.1:p.Val288Ile
NM_001320487.2:c.862G>A	NP_001307416.1:p.Val288Ile
NM_001320488.2:c.862G>A	NP_001307417.1:p.Val288Ile
NM_025204.4:c.862G>A	NP_079480.2:p.Val288Ile
NR_135275.2:n.956G>A
NM_001378762.1:c.862G>A	NP_001365691.1:p.Val288Ile
NM_001378765.1:c.862G>A	NP_001365694.1:p.Val288Ile