Canonical Allele Identifier: CA385214602

Gene: PMEL

Linked Data

• dbSNP Id: rs1888728099
• MyVariant Identifiers: chr12:g.56348017A>G (hg19) ; chr12:g.55954233A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55954233A>G , CM000674.2:g.55954233A>G	GRCh38
NC_000012.11:g.56348017A>G , CM000674.1:g.56348017A>G	GRCh37
NC_000012.10:g.54634284A>G	NCBI36
NG_028086.1:g.17480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1967T>C MANE Select	ENSP00000448828.1:p.Leu656Pro
ENST00000449260.6:c.1988T>C	ENSP00000402758.2:p.Leu663Pro
ENST00000548493.5:c.1967T>C	ENSP00000447374.1:p.Leu656Pro
ENST00000548747.5:c.1967T>C	ENSP00000448828.1:p.Leu656Pro
ENST00000550447.5:c.854T>C	ENSP00000448029.1:p.Leu285Pro
ENST00000550464.5:c.1709T>C	ENSP00000450036.1:p.Leu570Pro
ENST00000552882.5:c.1967T>C	ENSP00000449690.1:p.Leu656Pro
NM_001200053.1:c.1709T>C	NP_001186982.1:p.Leu570Pro
NM_001200054.1:c.1988T>C	NP_001186983.1:p.Leu663Pro
NM_006928.4:c.1967T>C	NP_008859.1:p.Leu656Pro
XM_006719569.1:c.1967T>C	XP_006719632.1:p.Leu656Pro
XM_011538685.1:c.1988T>C	XP_011536987.1:p.Leu663Pro
XM_011538686.1:c.1862T>C	XP_011536988.1:p.Leu621Pro
XM_011538687.1:c.1841T>C	XP_011536989.1:p.Leu614Pro
NM_001320121.1:c.1862T>C	NP_001307050.1:p.Leu621Pro
NM_001320122.1:c.1841T>C	NP_001307051.1:p.Leu614Pro
NM_001384361.1:c.1967T>C MANE Select	NP_001371290.1:p.Leu656Pro
NM_006928.5:c.1967T>C	NP_008859.1:p.Leu656Pro