Canonical Allele Identifier: CA385217697

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56351104G>A (hg19) ; chr12:g.55957320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957320G>A , CM000674.2:g.55957320G>A	GRCh38
NC_000012.11:g.56351104G>A , CM000674.1:g.56351104G>A	GRCh37
NC_000012.10:g.54637371G>A	NCBI36
NG_028086.1:g.14393C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.983C>T MANE Select	ENSP00000448828.1:p.Pro328Leu
ENST00000449260.6:c.983C>T	ENSP00000402758.2:p.Pro328Leu
ENST00000546543.5:c.836C>T	ENSP00000446662.1:p.Pro279Leu
ENST00000547137.5:c.821C>T	ENSP00000448849.1:p.Pro274Leu
ENST00000548493.5:c.983C>T	ENSP00000447374.1:p.Pro328Leu
ENST00000548747.5:c.983C>T	ENSP00000448828.1:p.Pro328Leu
ENST00000548803.5:c.536C>T	ENSP00000447732.1:p.Pro179Leu
ENST00000549404.5:c.645C>T
ENST00000549564.1:n.23C>T
ENST00000550447.5:c.358+1153C>T	ENSP00000448029.1:n.358+1153C>T
ENST00000550464.5:c.725C>T	ENSP00000450036.1:p.Pro242Leu
ENST00000552882.5:c.983C>T	ENSP00000449690.1:p.Pro328Leu
ENST00000556802.1:n.719C>T
NM_001200053.1:c.725C>T	NP_001186982.1:p.Pro242Leu
NM_001200054.1:c.983C>T	NP_001186983.1:p.Pro328Leu
NM_006928.4:c.983C>T	NP_008859.1:p.Pro328Leu
XM_006719569.1:c.983C>T	XP_006719632.1:p.Pro328Leu
XM_011538685.1:c.983C>T	XP_011536987.1:p.Pro328Leu
XM_011538686.1:c.983C>T	XP_011536988.1:p.Pro328Leu
XM_011538687.1:c.983C>T	XP_011536989.1:p.Pro328Leu
NM_001320121.1:c.983C>T	NP_001307050.1:p.Pro328Leu
NM_001320122.1:c.983C>T	NP_001307051.1:p.Pro328Leu
NM_001384361.1:c.983C>T MANE Select	NP_001371290.1:p.Pro328Leu
NM_006928.5:c.983C>T	NP_008859.1:p.Pro328Leu