Canonical Allele Identifier: CA385217094

Gene: PMEL

Linked Data

• gnomAD v4: 12-55957138-G-T
• MyVariant Identifiers: chr12:g.56350922G>T (hg19) ; chr12:g.55957138G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957138G>T , CM000674.2:g.55957138G>T	GRCh38
NC_000012.11:g.56350922G>T , CM000674.1:g.56350922G>T	GRCh37
NC_000012.10:g.54637189G>T	NCBI36
NG_028086.1:g.14575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1165C>A MANE Select	ENSP00000448828.1:p.Leu389Met
ENST00000449260.6:c.1165C>A	ENSP00000402758.2:p.Leu389Met
ENST00000547137.5:c.1003C>A	ENSP00000448849.1:p.Leu335Met
ENST00000548493.5:c.1165C>A	ENSP00000447374.1:p.Leu389Met
ENST00000548747.5:c.1165C>A	ENSP00000448828.1:p.Leu389Met
ENST00000548803.5:c.670+48C>A	ENSP00000447732.1:n.670+48C>A
ENST00000549404.5:c.779+48C>A
ENST00000549564.1:n.205C>A
ENST00000550447.5:c.359-1275C>A	ENSP00000448029.1:n.359-1275C>A
ENST00000550464.5:c.907C>A	ENSP00000450036.1:p.Leu303Met
ENST00000552882.5:c.1165C>A	ENSP00000449690.1:p.Leu389Met
NM_001200053.1:c.907C>A	NP_001186982.1:p.Leu303Met
NM_001200054.1:c.1165C>A	NP_001186983.1:p.Leu389Met
NM_006928.4:c.1165C>A	NP_008859.1:p.Leu389Met
XM_006719569.1:c.1165C>A	XP_006719632.1:p.Leu389Met
XM_011538685.1:c.1165C>A	XP_011536987.1:p.Leu389Met
XM_011538686.1:c.1117+48C>A	XP_011536988.1:n.1117+48C>A
XM_011538687.1:c.1117+48C>A	XP_011536989.1:n.1117+48C>A
NM_001320121.1:c.1117+48C>A	NP_001307050.1:n.1117+48C>A
NM_001320122.1:c.1117+48C>A	NP_001307051.1:n.1117+48C>A
NM_001384361.1:c.1165C>A MANE Select	NP_001371290.1:p.Leu389Met
NM_006928.5:c.1165C>A	NP_008859.1:p.Leu389Met