Canonical Allele Identifier: CA3893952

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75175212C>T , CM000668.2:g.75175212C>T	GRCh38
NC_000006.11:g.75884928C>T , CM000668.1:g.75884928C>T	GRCh37
NC_000006.10:g.75941648C>T	NCBI36
NG_042181.1:g.35696G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.2536G>A MANE Select	NP_004361.3:p.Val846Ile
ENST00000322507.13:c.2536G>A MANE Select	ENSP00000325146.8:p.Val846Ile
NM_004370.5:c.2536G>A	NP_004361.3:p.Val846Ile
NM_080645.2:c.74-22730G>A	NP_542376.2:n.74-22730G>A
NM_080645.3:c.74-22730G>A	NP_542376.2:n.74-22730G>A
ENST00000322507.12:c.2536G>A	ENSP00000325146.8:p.Val846Ile
ENST00000345356.10:c.74-22730G>A	ENSP00000305147.9:n.74-22730G>A
ENST00000416123.6:c.2536G>A	ENSP00000412864.2:p.Val846Ile
ENST00000483888.6:c.2536G>A	ENSP00000421216.1:p.Val846Ile
ENST00000615798.4:c.-1032G>A	ENSP00000483232.1:n.-1032G>A
XM_011535434.1:c.2536G>A	XP_011533736.1:p.Val846Ile
XM_011535435.1:c.2437+2451G>A	XP_011533737.1:n.2437+2451G>A
XM_011535436.1:c.74-22730G>A	XP_011533738.1:n.74-22730G>A
XM_011535436.2:c.74-22730G>A	XP_011533738.1:n.74-22730G>A
XM_017010252.2:c.2500G>A	XP_016865741.1:p.Val834Ile