Canonical Allele Identifier: CA3893322

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75142125T>C , CM000668.2:g.75142125T>C	GRCh38
NC_000006.11:g.75851841T>C , CM000668.1:g.75851841T>C	GRCh37
NC_000006.10:g.75908561T>C	NCBI36
NG_042181.1:g.68783A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4864A>G MANE Select	NP_004361.3:p.Lys1622Glu
ENST00000322507.13:c.4864A>G MANE Select	ENSP00000325146.8:p.Lys1622Glu
NM_004370.5:c.4864A>G	NP_004361.3:p.Lys1622Glu
NM_080645.2:c.1372A>G	NP_542376.2:p.Lys458Glu
NM_080645.3:c.1372A>G	NP_542376.2:p.Lys458Glu
ENST00000322507.12:c.4864A>G	ENSP00000325146.8:p.Lys1622Glu
ENST00000345356.10:c.1372A>G	ENSP00000305147.9:p.Lys458Glu
ENST00000416123.6:c.4864A>G	ENSP00000412864.2:p.Lys1622Glu
ENST00000419671.1:c.1088A>G
ENST00000483888.6:c.4864A>G	ENSP00000421216.1:p.Lys1622Glu
ENST00000615798.4:c.1297A>G	ENSP00000483232.1:p.Lys433Glu
XM_011535434.1:c.4864A>G	XP_011533736.1:p.Lys1622Glu
XM_011535435.1:c.4591A>G	XP_011533737.1:p.Lys1531Glu
XM_011535436.1:c.1372A>G	XP_011533738.1:p.Lys458Glu
XM_011535436.2:c.1372A>G	XP_011533738.1:p.Lys458Glu
XM_017010252.2:c.4828A>G	XP_016865741.1:p.Lys1610Glu