Canonical Allele Identifier: CA3893671

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75152478C>T , CM000668.2:g.75152478C>T	GRCh38
NC_000006.11:g.75862194C>T , CM000668.1:g.75862194C>T	GRCh37
NC_000006.10:g.75918914C>T	NCBI36
NG_042181.1:g.58430G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.3570G>A MANE Select	NP_004361.3:p.Met1190Ile
ENST00000322507.13:c.3570G>A MANE Select	ENSP00000325146.8:p.Met1190Ile
NM_004370.5:c.3570G>A	NP_004361.3:p.Met1190Ile
NM_080645.2:c.78G>A	NP_542376.2:p.Met26Ile
NM_080645.3:c.78G>A	NP_542376.2:p.Met26Ile
ENST00000322507.12:c.3570G>A	ENSP00000325146.8:p.Met1190Ile
ENST00000345356.10:c.78G>A	ENSP00000305147.9:p.Met26Ile
ENST00000416123.6:c.3570G>A	ENSP00000412864.2:p.Met1190Ile
ENST00000483888.6:c.3570G>A	ENSP00000421216.1:p.Met1190Ile
ENST00000615798.4:c.3G>A	ENSP00000483232.1:p.Met1Ile
XM_011535434.1:c.3570G>A	XP_011533736.1:p.Met1190Ile
XM_011535435.1:c.3297G>A	XP_011533737.1:p.Met1099Ile
XM_011535436.1:c.78G>A	XP_011533738.1:p.Met26Ile
XM_011535436.2:c.78G>A	XP_011533738.1:p.Met26Ile
XM_017010252.2:c.3534G>A	XP_016865741.1:p.Met1178Ile