Canonical Allele Identifier: CA3892030

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087694G>A , CM000668.2:g.75087694G>A	GRCh38
NC_000006.11:g.75797410G>A , CM000668.1:g.75797410G>A	GRCh37
NC_000006.10:g.75854130G>A	NCBI36
NG_042181.1:g.123214C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9064C>T MANE Select	NP_004361.3:p.Pro3022Ser
ENST00000322507.13:c.9064C>T MANE Select	ENSP00000325146.8:p.Pro3022Ser
NM_004370.5:c.9064C>T	NP_004361.3:p.Pro3022Ser
NM_080645.2:c.5572C>T	NP_542376.2:p.Pro1858Ser
NM_080645.3:c.5572C>T	NP_542376.2:p.Pro1858Ser
ENST00000322507.12:c.9064C>T	ENSP00000325146.8:p.Pro3022Ser
ENST00000345356.10:c.5572C>T	ENSP00000305147.9:p.Pro1858Ser
ENST00000416123.6:c.8836C>T	ENSP00000412864.2:p.Pro2946Ser
ENST00000425443.6:c.1978C>T	ENSP00000399812.2:p.Pro660Ser
ENST00000483888.6:c.9052C>T	ENSP00000421216.1:p.Pro3018Ser
ENST00000615798.4:c.5497C>T	ENSP00000483232.1:p.Pro1833Ser
ENST00000680981.1:n.473C>T
ENST00000681086.1:n.847C>T
XM_011535434.1:c.9064C>T	XP_011533736.1:p.Pro3022Ser
XM_011535435.1:c.8791C>T	XP_011533737.1:p.Pro2931Ser
XM_011535436.1:c.5572C>T	XP_011533738.1:p.Pro1858Ser
XM_011535436.2:c.5572C>T	XP_011533738.1:p.Pro1858Ser
XM_017010252.2:c.9028C>T	XP_016865741.1:p.Pro3010Ser