Canonical Allele Identifier: CA16309418

Gene: AP1S1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101156850T>C , CM000669.2:g.101156850T>C	GRCh38
NC_000007.13:g.100800131T>C , CM000669.1:g.100800131T>C	GRCh37
NC_000007.12:g.100586851T>C	NCBI36
NG_033082.1:g.7446T>C
NG_033082.2:g.7453T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001283.5:c.182+78T>C MANE Select	NP_001274.1:n.182+78T>C
ENST00000337619.11:c.182+78T>C MANE Select	ENSP00000336666.5:n.182+78T>C
NM_001283.3:c.182+78T>C	NP_001274.1:n.182+78T>C
NM_001283.4:c.182+78T>C	NP_001274.1:n.182+78T>C
ENST00000337619.9:c.182+78T>C	ENSP00000336666.5:n.182+78T>C
ENST00000429457.1:c.307+78T>C
ENST00000443943.5:c.182+78T>C	ENSP00000410780.1:n.182+78T>C
ENST00000643104.1:n.99+78T>C
ENST00000646560.1:c.179+78T>C	ENSP00000496031.1:n.179+78T>C
ENST00000646950.1:c.*250+78T>C	ENSP00000496332.1:n.*250+78T>C