Canonical Allele Identifier: CA394883977

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244585C>A (hg19) ; chr16:g.16150728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150728C>A , CM000678.2:g.16150728C>A	GRCh38
NC_000016.9:g.16244585C>A , CM000678.1:g.16244585C>A	GRCh37
NC_000016.8:g.16152086C>A	NCBI36
NG_007558.2:g.77744G>T
NG_007558.3:g.77890G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*425G>T	ENSP00000483331.2:n.*425G>T
ENST00000205557.12:c.4253G>T MANE Select	ENSP00000205557.7:p.Arg1418Leu
ENST00000640696.1:c.1067G>T	ENSP00000492197.1:p.Arg356Leu
ENST00000205557.11:c.4253G>T	ENSP00000205557.7:p.Arg1418Leu
ENST00000456970.6:c.3878G>T	ENSP00000405002.2:n.3878G>T
ENST00000576204.5:n.1116G>T
ENST00000622290.4:c.*1462G>T	ENSP00000483331.1:n.*1462G>T
NM_001171.5:c.4253G>T	NP_001162.4:p.Arg1418Leu
XM_011522479.1:c.4220G>T	XP_011520781.1:p.Arg1407Leu
XM_011522480.1:c.3911G>T	XP_011520782.1:p.Arg1304Leu
XM_011522481.1:c.3911G>T	XP_011520783.1:p.Arg1304Leu
XR_933134.1:n.538+6438C>A
NM_001351800.1:c.3911G>T	NP_001338729.1:p.Arg1304Leu
NR_147784.1:n.3915G>T
XM_011522479.2:c.4220G>T	XP_011520781.1:p.Arg1407Leu
XM_011522481.3:c.3911G>T	XP_011520783.1:p.Arg1304Leu
XM_017023212.1:c.4085G>T	XP_016878701.1:p.Arg1362Leu
XM_024450261.1:c.4289G>T	XP_024306029.1:p.Arg1430Leu
NM_001171.6:c.4253G>T MANE Select	NP_001162.5:p.Arg1418Leu