Canonical Allele Identifier: CA1139991234

Gene: MMEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2595307A= , CM000663.2:g.2595307A=	GRCh38
NC_000001.10:g.2526746A= , CM000663.1:g.2526746A=	GRCh37
NC_000001.9:g.2516606A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033467.4:c.1553T= MANE Select	NP_258428.2:p.Met518=
ENST00000378412.8:c.1553T= MANE Select	ENSP00000367668.3:p.Met518=
NM_033467.3:c.1553T=	NP_258428.2:p.Met518=
ENST00000378412.7:c.1553T=	ENSP00000367668.3:p.Met518=
ENST00000502556.5:c.1082T=	ENSP00000422492.1:p.Met361=
ENST00000504800.5:c.1553T=	ENSP00000425477.1:p.Met518=
XM_011542115.1:c.1616T=	XP_011540417.1:p.Met539=
XM_011542116.1:c.1616T=	XP_011540418.1:p.Met539=
XM_011542117.1:c.1562T=	XP_011540419.1:p.Met521=
XM_011542118.1:c.1538T=	XP_011540420.1:p.Met513=
XM_011542119.1:c.1616T=	XP_011540421.1:p.Met539=
XM_011542120.1:c.1304T=	XP_011540422.1:p.Met435=
XM_011542121.1:c.845T=	XP_011540423.1:p.Met282=
XM_011542122.1:c.782T=	XP_011540424.1:p.Met261=
XM_011542122.2:c.782T=	XP_011540424.1:p.Met261=
XM_017002310.1:c.1553T=	XP_016857799.1:p.Met518=
XM_017002311.1:c.1499T=	XP_016857800.1:p.Met500=
XM_017002312.1:c.1475T=	XP_016857801.1:p.Met492=
XM_017002313.1:c.1553T=	XP_016857802.1:p.Met518=
XM_017002314.1:c.1424T=	XP_016857803.1:p.Met475=
XM_017002315.1:c.1241T=	XP_016857804.1:p.Met414=
XR_001737402.1:n.1767T=
XR_946752.1:n.1830T=
XR_946753.1:n.1830T=
XR_946754.1:n.1767T=