Canonical Allele Identifier: CA364741448

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75109017C>G , CM000668.2:g.75109017C>G	GRCh38
NC_000006.11:g.75818733C>G , CM000668.1:g.75818733C>G	GRCh37
NC_000006.10:g.75875453C>G	NCBI36
NG_042181.1:g.101891G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8100+1G>C MANE Select	NP_004361.3:n.8100+1G>C
ENST00000322507.13:c.8100+1G>C MANE Select	ENSP00000325146.8:n.8100+1G>C
NM_004370.5:c.8100+1G>C	NP_004361.3:n.8100+1G>C
NM_080645.2:c.4608+1G>C	NP_542376.2:n.4608+1G>C
NM_080645.3:c.4608+1G>C	NP_542376.2:n.4608+1G>C
ENST00000322507.12:c.8100+1G>C	ENSP00000325146.8:n.8100+1G>C
ENST00000345356.10:c.4608+1G>C	ENSP00000305147.9:n.4608+1G>C
ENST00000416123.6:c.7951-3725G>C	ENSP00000412864.2:n.7951-3725G>C
ENST00000425443.6:c.1014+1G>C	ENSP00000399812.2:n.1014+1G>C
ENST00000483888.6:c.8100+1G>C	ENSP00000421216.1:n.8100+1G>C
ENST00000615798.4:c.4533+1G>C	ENSP00000483232.1:n.4533+1G>C
XM_011535434.1:c.8100+1G>C	XP_011533736.1:n.8100+1G>C
XM_011535435.1:c.7827+1G>C	XP_011533737.1:n.7827+1G>C
XM_011535436.1:c.4608+1G>C	XP_011533738.1:n.4608+1G>C
XM_011535436.2:c.4608+1G>C	XP_011533738.1:n.4608+1G>C
XM_017010252.2:c.8064+1G>C	XP_016865741.1:n.8064+1G>C