Canonical Allele Identifier: CA3892815

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75126384C>G , CM000668.2:g.75126384C>G	GRCh38
NC_000006.11:g.75836100C>G , CM000668.1:g.75836100C>G	GRCh37
NC_000006.10:g.75892820C>G	NCBI36
NG_042181.1:g.84524G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.6427G>C MANE Select	NP_004361.3:p.Val2143Leu
ENST00000322507.13:c.6427G>C MANE Select	ENSP00000325146.8:p.Val2143Leu
NM_004370.5:c.6427G>C	NP_004361.3:p.Val2143Leu
NM_080645.2:c.2935G>C	NP_542376.2:p.Val979Leu
NM_080645.3:c.2935G>C	NP_542376.2:p.Val979Leu
ENST00000322507.12:c.6427G>C	ENSP00000325146.8:p.Val2143Leu
ENST00000345356.10:c.2935G>C	ENSP00000305147.9:p.Val979Leu
ENST00000416123.6:c.6427G>C	ENSP00000412864.2:p.Val2143Leu
ENST00000483888.6:c.6427G>C	ENSP00000421216.1:p.Val2143Leu
ENST00000615798.4:c.2860G>C	ENSP00000483232.1:p.Val954Leu
XM_011535434.1:c.6427G>C	XP_011533736.1:p.Val2143Leu
XM_011535435.1:c.6154G>C	XP_011533737.1:p.Val2052Leu
XM_011535436.1:c.2935G>C	XP_011533738.1:p.Val979Leu
XM_011535436.2:c.2935G>C	XP_011533738.1:p.Val979Leu
XM_017010252.2:c.6391G>C	XP_016865741.1:p.Val2131Leu