Canonical Allele Identifier: CA394875664

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248798T>G (hg19) ; chr16:g.16154941T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154941T>G , CM000678.2:g.16154941T>G	GRCh38
NC_000016.9:g.16248798T>G , CM000678.1:g.16248798T>G	GRCh37
NC_000016.8:g.16156299T>G	NCBI36
NG_007558.2:g.73531A>C
NG_007558.3:g.73677A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.836A>C
ENST00000622290.5:c.*145A>C	ENSP00000483331.2:n.*145A>C
ENST00000205557.12:c.3973A>C MANE Select	ENSP00000205557.7:p.Ile1325Leu
ENST00000640696.1:c.787A>C	ENSP00000492197.1:p.Ile263Leu
ENST00000205557.11:c.3973A>C	ENSP00000205557.7:p.Ile1325Leu
ENST00000456970.6:c.3598A>C	ENSP00000405002.2:n.3598A>C
ENST00000576204.5:n.836A>C
ENST00000622290.4:c.*1182A>C	ENSP00000483331.1:n.*1182A>C
NM_001171.5:c.3973A>C	NP_001162.4:p.Ile1325Leu
XM_011522479.1:c.3940A>C	XP_011520781.1:p.Ile1314Leu
XM_011522480.1:c.3631A>C	XP_011520782.1:p.Ile1211Leu
XM_011522481.1:c.3631A>C	XP_011520783.1:p.Ile1211Leu
XR_933134.1:n.539-4840T>G
NM_001351800.1:c.3631A>C	NP_001338729.1:p.Ile1211Leu
NR_147784.1:n.3635A>C
XM_011522479.2:c.3940A>C	XP_011520781.1:p.Ile1314Leu
XM_011522481.3:c.3631A>C	XP_011520783.1:p.Ile1211Leu
XM_017023212.1:c.3805A>C	XP_016878701.1:p.Ile1269Leu
XM_024450261.1:c.4009A>C	XP_024306029.1:p.Ile1337Leu
NM_001171.6:c.3973A>C MANE Select	NP_001162.5:p.Ile1325Leu