Canonical Allele Identifier: CA385214818

Gene: PMEL

Linked Data

• MyVariant Identifiers: chr12:g.56348116T>G (hg19) ; chr12:g.55954332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954332T>G , CM000674.2:g.55954332T>G	GRCh38
NC_000012.11:g.56348116T>G , CM000674.1:g.56348116T>G	GRCh37
NC_000012.10:g.54634383T>G	NCBI36
NG_028086.1:g.17381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1868A>C MANE Select	ENSP00000448828.1:p.Gln623Pro
ENST00000449260.6:c.1889A>C	ENSP00000402758.2:p.Gln630Pro
ENST00000548493.5:c.1868A>C	ENSP00000447374.1:p.Gln623Pro
ENST00000548747.5:c.1868A>C	ENSP00000448828.1:p.Gln623Pro
ENST00000549564.1:n.447A>C
ENST00000550447.5:c.755A>C	ENSP00000448029.1:p.Gln252Pro
ENST00000550464.5:c.1610A>C	ENSP00000450036.1:p.Gln537Pro
ENST00000552882.5:c.1868A>C	ENSP00000449690.1:p.Gln623Pro
NM_001200053.1:c.1610A>C	NP_001186982.1:p.Gln537Pro
NM_001200054.1:c.1889A>C	NP_001186983.1:p.Gln630Pro
NM_006928.4:c.1868A>C	NP_008859.1:p.Gln623Pro
XM_006719569.1:c.1868A>C	XP_006719632.1:p.Gln623Pro
XM_011538685.1:c.1889A>C	XP_011536987.1:p.Gln630Pro
XM_011538686.1:c.1763A>C	XP_011536988.1:p.Gln588Pro
XM_011538687.1:c.1742A>C	XP_011536989.1:p.Gln581Pro
NM_001320121.1:c.1763A>C	NP_001307050.1:p.Gln588Pro
NM_001320122.1:c.1742A>C	NP_001307051.1:p.Gln581Pro
NM_001384361.1:c.1868A>C MANE Select	NP_001371290.1:p.Gln623Pro
NM_006928.5:c.1868A>C	NP_008859.1:p.Gln623Pro