Canonical Allele Identifier: CA480178401

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56348064T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954280T>A , CM000674.2:g.55954280T>A	GRCh38
NC_000012.11:g.56348064T>A , CM000674.1:g.56348064T>A	GRCh37
NC_000012.10:g.54634331T>A	NCBI36
NG_028086.1:g.17433A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1920A>T MANE Select	ENSP00000448828.1:p.Leu640=
ENST00000449260.6:c.1941A>T	ENSP00000402758.2:p.Leu647=
ENST00000548493.5:c.1920A>T	ENSP00000447374.1:p.Leu640=
ENST00000548747.5:c.1920A>T	ENSP00000448828.1:p.Leu640=
ENST00000549564.1:n.499A>T
ENST00000550447.5:c.807A>T	ENSP00000448029.1:p.Leu269=
ENST00000550464.5:c.1662A>T	ENSP00000450036.1:p.Leu554=
ENST00000552882.5:c.1920A>T	ENSP00000449690.1:p.Leu640=
NM_001200053.1:c.1662A>T	NP_001186982.1:p.Leu554=
NM_001200054.1:c.1941A>T	NP_001186983.1:p.Leu647=
NM_006928.4:c.1920A>T	NP_008859.1:p.Leu640=
XM_006719569.1:c.1920A>T	XP_006719632.1:p.Leu640=
XM_011538685.1:c.1941A>T	XP_011536987.1:p.Leu647=
XM_011538686.1:c.1815A>T	XP_011536988.1:p.Leu605=
XM_011538687.1:c.1794A>T	XP_011536989.1:p.Leu598=
NM_001320121.1:c.1815A>T	NP_001307050.1:p.Leu605=
NM_001320122.1:c.1794A>T	NP_001307051.1:p.Leu598=
NM_001384361.1:c.1920A>T MANE Select	NP_001371290.1:p.Leu640=
NM_006928.5:c.1920A>T	NP_008859.1:p.Leu640=