Canonical Allele Identifier: CA542336

Gene: MMEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2594836C>T , CM000663.2:g.2594836C>T	GRCh38
NC_000001.10:g.2526275C>T , CM000663.1:g.2526275C>T	GRCh37
NC_000001.9:g.2516135C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378412.8:c.1642G>A MANE Select	ENSP00000367668.3:p.Ala548Thr
ENST00000378412.7:c.1642G>A	ENSP00000367668.3:p.Ala548Thr
ENST00000502556.5:c.1171G>A	ENSP00000422492.1:p.Ala391Thr
ENST00000504800.5:c.1642G>A	ENSP00000425477.1:p.Ala548Thr
NM_033467.3:c.1642G>A	NP_258428.2:p.Ala548Thr
XM_011542115.1:c.1705G>A	XP_011540417.1:p.Ala569Thr
XM_011542116.1:c.1705G>A	XP_011540418.1:p.Ala569Thr
XM_011542117.1:c.1651G>A	XP_011540419.1:p.Ala551Thr
XM_011542118.1:c.1627G>A	XP_011540420.1:p.Ala543Thr
XM_011542119.1:c.1705G>A	XP_011540421.1:p.Ala569Thr
XM_011542120.1:c.1393G>A	XP_011540422.1:p.Ala465Thr
XM_011542121.1:c.934G>A	XP_011540423.1:p.Ala312Thr
XM_011542122.1:c.871G>A	XP_011540424.1:p.Ala291Thr
XR_946752.1:n.1919G>A
XR_946753.1:n.1919G>A
XR_946754.1:n.1856G>A
XM_011542122.2:c.871G>A	XP_011540424.1:p.Ala291Thr
XM_017002310.1:c.1642G>A	XP_016857799.1:p.Ala548Thr
XM_017002311.1:c.1588G>A	XP_016857800.1:p.Ala530Thr
XM_017002312.1:c.1564G>A	XP_016857801.1:p.Ala522Thr
XM_017002313.1:c.1642G>A	XP_016857802.1:p.Ala548Thr
XM_017002314.1:c.1513G>A	XP_016857803.1:p.Ala505Thr
XM_017002315.1:c.1330G>A	XP_016857804.1:p.Ala444Thr
XR_001737402.1:n.1856G>A
NM_033467.4:c.1642G>A MANE Select	NP_258428.2:p.Ala548Thr