Canonical Allele Identifier: CA385214711

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56348071A>T (hg19) ; chr12:g.55954287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954287A>T , CM000674.2:g.55954287A>T	GRCh38
NC_000012.11:g.56348071A>T , CM000674.1:g.56348071A>T	GRCh37
NC_000012.10:g.54634338A>T	NCBI36
NG_028086.1:g.17426T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1913T>A MANE Select	ENSP00000448828.1:p.Leu638Gln
ENST00000449260.6:c.1934T>A	ENSP00000402758.2:p.Leu645Gln
ENST00000548493.5:c.1913T>A	ENSP00000447374.1:p.Leu638Gln
ENST00000548747.5:c.1913T>A	ENSP00000448828.1:p.Leu638Gln
ENST00000549564.1:n.492T>A
ENST00000550447.5:c.800T>A	ENSP00000448029.1:p.Leu267Gln
ENST00000550464.5:c.1655T>A	ENSP00000450036.1:p.Leu552Gln
ENST00000552882.5:c.1913T>A	ENSP00000449690.1:p.Leu638Gln
NM_001200053.1:c.1655T>A	NP_001186982.1:p.Leu552Gln
NM_001200054.1:c.1934T>A	NP_001186983.1:p.Leu645Gln
NM_006928.4:c.1913T>A	NP_008859.1:p.Leu638Gln
XM_006719569.1:c.1913T>A	XP_006719632.1:p.Leu638Gln
XM_011538685.1:c.1934T>A	XP_011536987.1:p.Leu645Gln
XM_011538686.1:c.1808T>A	XP_011536988.1:p.Leu603Gln
XM_011538687.1:c.1787T>A	XP_011536989.1:p.Leu596Gln
NM_001320121.1:c.1808T>A	NP_001307050.1:p.Leu603Gln
NM_001320122.1:c.1787T>A	NP_001307051.1:p.Leu596Gln
NM_001384361.1:c.1913T>A MANE Select	NP_001371290.1:p.Leu638Gln
NM_006928.5:c.1913T>A	NP_008859.1:p.Leu638Gln