Canonical Allele Identifier: CA394884758

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248620A>G (hg19) ; chr16:g.16154763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154763A>G , CM000678.2:g.16154763A>G	GRCh38
NC_000016.9:g.16248620A>G , CM000678.1:g.16248620A>G	GRCh37
NC_000016.8:g.16156121A>G	NCBI36
NG_007558.2:g.73709T>C
NG_007558.3:g.73855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.936T>C
ENST00000622290.5:c.*245T>C	ENSP00000483331.2:n.*245T>C
ENST00000205557.12:c.4073T>C MANE Select	ENSP00000205557.7:p.Met1358Thr
ENST00000640696.1:c.887T>C	ENSP00000492197.1:p.Met296Thr
ENST00000205557.11:c.4073T>C	ENSP00000205557.7:p.Met1358Thr
ENST00000456970.6:c.3698T>C	ENSP00000405002.2:n.3698T>C
ENST00000576204.5:n.936T>C
ENST00000622290.4:c.*1282T>C	ENSP00000483331.1:n.*1282T>C
NM_001171.5:c.4073T>C	NP_001162.4:p.Met1358Thr
XM_011522479.1:c.4040T>C	XP_011520781.1:p.Met1347Thr
XM_011522480.1:c.3731T>C	XP_011520782.1:p.Met1244Thr
XM_011522481.1:c.3731T>C	XP_011520783.1:p.Met1244Thr
XR_933134.1:n.539-5018A>G
NM_001351800.1:c.3731T>C	NP_001338729.1:p.Met1244Thr
NR_147784.1:n.3735T>C
XM_011522479.2:c.4040T>C	XP_011520781.1:p.Met1347Thr
XM_011522481.3:c.3731T>C	XP_011520783.1:p.Met1244Thr
XM_017023212.1:c.3905T>C	XP_016878701.1:p.Met1302Thr
XM_024450261.1:c.4109T>C	XP_024306029.1:p.Met1370Thr
NM_001171.6:c.4073T>C MANE Select	NP_001162.5:p.Met1358Thr