Canonical Allele Identifier: CA337983952

Gene: MMEL1

Linked Data

• dbSNP Id: rs3748816
• gnomAD v4: 1-2595307-A-T
• MyVariant Identifiers: chr1:g.2526746A>T (hg19) ; chr1:g.2595307A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000378412.8:c.1553T>A MANE Select	ENSP00000367668.3:p.Met518Lys
ENST00000378412.7:c.1553T>A	ENSP00000367668.3:p.Met518Lys
ENST00000502556.5:c.1082T>A	ENSP00000422492.1:p.Met361Lys
ENST00000504800.5:c.1553T>A	ENSP00000425477.1:p.Met518Lys
NM_033467.3:c.1553T>A	NP_258428.2:p.Met518Lys
XM_011542115.1:c.1616T>A	XP_011540417.1:p.Met539Lys
XM_011542116.1:c.1616T>A	XP_011540418.1:p.Met539Lys
XM_011542117.1:c.1562T>A	XP_011540419.1:p.Met521Lys
XM_011542118.1:c.1538T>A	XP_011540420.1:p.Met513Lys
XM_011542119.1:c.1616T>A	XP_011540421.1:p.Met539Lys
XM_011542120.1:c.1304T>A	XP_011540422.1:p.Met435Lys
XM_011542121.1:c.845T>A	XP_011540423.1:p.Met282Lys
XM_011542122.1:c.782T>A	XP_011540424.1:p.Met261Lys
XR_946752.1:n.1830T>A
XR_946753.1:n.1830T>A
XR_946754.1:n.1767T>A
XM_011542122.2:c.782T>A	XP_011540424.1:p.Met261Lys
XM_017002310.1:c.1553T>A	XP_016857799.1:p.Met518Lys
XM_017002311.1:c.1499T>A	XP_016857800.1:p.Met500Lys
XM_017002312.1:c.1475T>A	XP_016857801.1:p.Met492Lys
XM_017002313.1:c.1553T>A	XP_016857802.1:p.Met518Lys
XM_017002314.1:c.1424T>A	XP_016857803.1:p.Met475Lys
XM_017002315.1:c.1241T>A	XP_016857804.1:p.Met414Lys
XR_001737402.1:n.1767T>A
NM_033467.4:c.1553T>A MANE Select	NP_258428.2:p.Met518Lys