Canonical Allele Identifier: CA2126958395

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885995T= , CM000676.2:g.30885995T=	GRCh38
NC_000014.8:g.31355201T= , CM000676.1:g.31355201T=	GRCh37
NC_000014.7:g.30424952T=	NCBI36
NG_008211.2:g.16461T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1355T=	ENSP00000216361.5:p.Leu452=
ENST00000396618.9:c.1160T= MANE Select	ENSP00000379862.3:p.Leu387=
ENST00000555117.2:c.1217T=	ENSP00000493569.1:p.Leu406=
ENST00000643575.1:c.1160T=	ENSP00000494838.1:p.Leu387=
ENST00000643697.1:n.1462T=
ENST00000644874.2:c.1160T=	ENSP00000496360.1:p.Leu387=
ENST00000216361.8:c.1160T=	ENSP00000216361.4:p.Leu387=
ENST00000396618.7:c.1160T=	ENSP00000379862.3:p.Leu387=
ENST00000460581.6:c.824T=	ENSP00000451713.1:p.Leu275=
ENST00000468826.2:c.811T=
ENST00000475087.5:c.1160T=	ENSP00000451528.1:p.Leu387=
NM_001135058.1:c.1160T=	NP_001128530.1:p.Leu387=
NM_004086.2:c.1160T=	NP_004077.1:p.Leu387=
NR_038356.1:n.870A=
XM_011536539.1:c.1160T=	XP_011534841.1:p.Leu387=
NM_001347720.1:c.1355T=	NP_001334649.1:p.Leu452=
XM_017021071.1:c.1355T=	XP_016876560.1:p.Leu452=
XM_024449506.1:c.1217T=	XP_024305274.1:p.Leu406=
NM_004086.3:c.1160T= MANE Select	NP_004077.1:p.Leu387=
NM_001135058.2:c.1160T=	NP_001128530.1:p.Leu387=
NM_001347720.2:c.1355T=	NP_001334649.1:p.Leu452=