Canonical Allele Identifier: CA542373

Gene: MMEL1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378412.8:c.1553T>C MANE Select	ENSP00000367668.3:p.Met518Thr
ENST00000378412.7:c.1553T>C	ENSP00000367668.3:p.Met518Thr
ENST00000502556.5:c.1082T>C	ENSP00000422492.1:p.Met361Thr
ENST00000504800.5:c.1553T>C	ENSP00000425477.1:p.Met518Thr
NM_033467.3:c.1553T>C	NP_258428.2:p.Met518Thr
XM_011542115.1:c.1616T>C	XP_011540417.1:p.Met539Thr
XM_011542116.1:c.1616T>C	XP_011540418.1:p.Met539Thr
XM_011542117.1:c.1562T>C	XP_011540419.1:p.Met521Thr
XM_011542118.1:c.1538T>C	XP_011540420.1:p.Met513Thr
XM_011542119.1:c.1616T>C	XP_011540421.1:p.Met539Thr
XM_011542120.1:c.1304T>C	XP_011540422.1:p.Met435Thr
XM_011542121.1:c.845T>C	XP_011540423.1:p.Met282Thr
XM_011542122.1:c.782T>C	XP_011540424.1:p.Met261Thr
XR_946752.1:n.1830T>C
XR_946753.1:n.1830T>C
XR_946754.1:n.1767T>C
XM_011542122.2:c.782T>C	XP_011540424.1:p.Met261Thr
XM_017002310.1:c.1553T>C	XP_016857799.1:p.Met518Thr
XM_017002311.1:c.1499T>C	XP_016857800.1:p.Met500Thr
XM_017002312.1:c.1475T>C	XP_016857801.1:p.Met492Thr
XM_017002313.1:c.1553T>C	XP_016857802.1:p.Met518Thr
XM_017002314.1:c.1424T>C	XP_016857803.1:p.Met475Thr
XM_017002315.1:c.1241T>C	XP_016857804.1:p.Met414Thr
XR_001737402.1:n.1767T>C
NM_033467.4:c.1553T>C MANE Select	NP_258428.2:p.Met518Thr